Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 15 | 93598604 | intron variant | T/G | snv | 0.10 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
3 | 0.882 | 0.160 | 6 | 151873899 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 14 | 59643053 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 14 | 59642862 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 15 | 47852953 | intron variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | 5 | 98869326 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 6 | 151872861 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.807 | 0.240 | 7 | 150339575 | intron variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 10 | 79164105 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 15 | 93608310 | intron variant | G/A | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 20343125 | intron variant | G/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 14 | 59691018 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 22 | 36299382 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.280 | 14 | 94493715 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 |